Publications
Over the last several years there have been numerous papers published on the subject of Pompe disease and Pompe disease research. The following is a partial list (in chronological order) of these publications.
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January 2012
Spinal Delivery of AAV Vector Restores Enzyme Activity and Increases Ventilation in Pompe Mice
The American Society of Gene and Cell Therapy
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December 2011
Genetic Implications of Newborn Screening
Acid Maltase Deficiency Association
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September 2011
Expanding the phenotype of late-onset pompe disease: Tongue weakness: A new clinical observation.
Wiley Online Library
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September 2011
Facial-Muscle Weakness, Speech Disorders and Dysphagia are Common in Patients with Classic Infantile Pompe Disease Treated with Enzyme Therapy
Journal of Inherited Metabolic Disorders
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June 2011
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
Orphanet Journal of Rare Diseases
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May 2011
Pompe disease gene therapy
Human Molecular Genetics
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May 2011
Suction-Modified Bergstrom Muscle Biopsy Technique: Experience with 13500 Procedures
Muscle and Nerve
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April 2011
Burden of illness of Pompe disease in patients only receiving supportive care
Journal of Inherited Metabolic Disease
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February 2011
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle
Molecular Genetics and Metabolism
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December 2010
Where do we stand in enzyme replacement therapy in Pompe’s disease?
Neuromuscular Disorders
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November 2010
Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease
The Journal of Gene Medicine
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September 2010
Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study
Neurmuscular Disorders
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August 2010
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
Molecular Genetics and Metabolism
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August 2010
Hydrostatic Isolated Limb Perfusion with Adeno-associated Virus Vectors Enhances Correction of Skeletal Muscle in Pompe Disease
Gene Therapy
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August 2010
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
Molecular Genetics and Metabolism (Abstract Only)
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July 2010
Use of Cardiac Magnetic Resonance Imaging to Evaluate Cardiac Structure
Molecular Genetics Metabolism
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July 2010
Hearing loss in Pompe disease revisited: results from a study of 24 children
Journal of Inherited Metabolic Disease
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July 2010
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype
Blood (Abstract Only)
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June 2010
Low bone mass in Pompe disease: Muscular strength as a predictor of bone mineral density
Bone
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June 2010
Termination of autophagy and reformation of lysosomes regulated by mTOR
Nature
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April 2010
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
The NEW ENGLAND JOURNAL of MEDICINE
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April 2010
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease
Genetics in Medicine, Courtesy of Monty Frost
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January 2010
Therapy for Lysosomal Storage Disorders
Life
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December 2009
Immunomodulatory Gene Therapy in Lysosomal Storage Disorders
Current Gene Therapy
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November 2009
Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa
Molecular Genetics and Metabolism (Abstract Only)
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November 2009
Fatigue in neuromuscular disorders: Focus on Guillain-Barré syndrome and Pompe disease
Cellular and Molecular Life Sciences
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October 2009
Therapeutic approaches in Glycogen Storage Disease type II (GSDII)/Pompe disease
Neurotherapeutics
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September 2009
Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease
Pediatric Research
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August 2009
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants
Molecular Genetics and Metabolism
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August 2009
Immunomodulatory Gene Therapy Prevents Antibody Formation and Lethal Hypersensitivity Reactions in Murine Pompe Disease
Molecular Therapy
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July 2009
The values and limits of an in vitro model of Pompe disease: The best laid schemes o' mice an' men.
Autophagy
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June 2009
Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease
Molecular Therapy
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June 2009
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
Molecular Therapy
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April 2009
Murine Muscle Cell Models for Pompe Disease and Their Use in Studying Therapeutic Approaches
Molecular Genetics and Metabolism
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April 2009
Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease
Case Reports in Medicine
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February 2009
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease
Neuromuscular Disorders (Abstract Only)
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September 2008
A Dutch guideline for the treatment of scoliosis in neuromuscular disorders
Scoliosis
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June 2008
Correction of Multiple Striated Muscles in Murine Pompe Disease Through Adeno-associated Virus–mediated Gene Therapy
Molecular Therapy
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June 2008
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease
Neuromuscular Disorders (Abstract Only)
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December 2007
Deconstructing Pompe Disease by Analyzing Single Muscle Fibers
Autophagy
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November 2007
Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance
The American Journal of Human Genetics
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January 2007
Fractures in children with Pompe disease: a potential long-term complication
Pediatric Radiology
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September 2006
Hyaluronidase increases the biodistribution of acid a-14, glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy
Biochemical and Biophysical Research Communications, Courtesy of Jared Salbato
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September 2006
Chemical chaperones inprove transport and enhance stability of mutant a-glucosidases in glycogen storage disease type II
Molecular Genetics and Metabolism, Spetember 2006, Courtesy of Jared Salbato
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August 2006
Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease
Molecular Therapy, August 2006, Courtesy of Jared Salbato
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April 2006
Dysfunction of Endocytic and Autophagic Pathways in a Lysosomal Storage Disease (Annals of Neurology, April 2006)
Annals of Neurology, April 2006, Courtesy of Jared Salbato
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January 2006
Characterization of Pre- and Post-Treatment Pathology After Enzyme Replacement Therapy for Pompe Disease
Laboratory Investigations, 2006, Courtesy of Jared Salbato
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July 2005
Evasion of Immune Responses to Introduced Human Acid alpha-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II
Molecular Therapy, July 2005, Courtesy of Jared Salbato
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June 2005
Correction of Glycogen Storage Disease Type II by an Adeno-associated Virus Vector Containing a Muscle-Specific Promoter
Molecular Therapy, June 2005, courtesy of Jared Salbato
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June 2005
Disease severity in children and adults with Pompe disease related to age and disease duration
Neurology, June 2005, Courtesy of the IPA Web Site
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April 2005
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype I vectors
Gene Therapy, April 2005, Courtesy of Jared Salbato
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January 2005
Impact of Humoral Immune Response on Distribution and Efficacy of Recombinant Adeno-Associated Virus-Derived Acid a-Glucosidase in a Model of Glycogen Storage Disease Type II
Human Gene Therapy, January 2005, courtesy of George Fox
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January 2005
Efficacy of an Adeno-associated Virus 8-Pseudotyped Vector in Glycogen Storage Disease Type II
Molecular Therapy, January 2005, courtesy of Monty Frost
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January 2005
Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients
Brain: A Journal of Neurology, January 2005, courtesy of the IPA Web Site
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November 2004
Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid a-Glucosidase Improves the Clearance of Glycogen in Pompe Mice
Journal of Biological Chemistry, November 2004
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November 2004
Late-onset Pompe disease primarily affects quality of life in physical health domains
Annals of Neurology, November 2004, courtesy of the IPA Web Site
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September 2004
Enhanced tissue delivery of acid alpha-glucosidase
Journal of Biological Chemistry, September 2004, courtesy of Jared Salbato
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August 2004
Lipoprotein Receptor Binding, Cellular Uptake, and Lysosomal Delivery of Fusions between the Receptor-associated Protein (RAP) and a-L-Iduronidase or Acid a-Glucosidase
Journal of Biological Chemistry, August 2004, courtesy of Jared Salbato
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May 2004
Pompe’s Disease. World Succes with a Setback: Laborious Production of the Medicine
Erasmus Monitor, April/May 2004, courtesy IPA Web Site
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May 2004
Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human Alpha-Glucosidase From Milk
Pediatrics, May 2004, courtesy of Gezinus Wolters
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March 2004
Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease
Development, March 2004, courtesy of Jared Salbato
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March 2004
Virus Vector Delivery to Murine Diaphragm (Gene Therapy for Pompe's Disease a.o.)
Molecular Therapy, March 2004, courtesy Gezinus Wolters
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October 2003
Correction/mutation of acid a-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies
Gene Therapy, October 2003
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August 2003
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
Pediatrics, August 2003
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July 2000
Recombinant human alpha-glucosidase from rabbit milk in Pompe patients
Lancet, July 2000
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February 1998
Clinical and Metabolic Correction of Pompe Disease by Enzyme Therapy in Acid Maltase–deficient Quail
Journal of Clinical Investigations, February 1998
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May 1997
Dietary treatment in late-onset acid maltase deficiency
European Journal of Pediatrics, 1997
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January 1936
J.C. Pompe's Thesis: Cardiomegalia Glycogenica
Courtesy of Gezinus Wolters' Homepage (The thesis itself is in Dutch, but there are French and English Summaries on the last few pages)
